COQ6

Last update 08 May 2025

Basic Info

Synonyms

CGI-10, Coenzyme Q10 monooxygenase 6, coenzyme Q6, monooxygenase

+ [2]

Introduction

FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-hexaprenyl-4-hydroxybenzoic acid (HHB) to 3-hexaprenyl-4,5-dihydroxybenzoic acid (DHHB). The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6 (By similarity). Is able to perform the deamination reaction at C4 of 3-hexaprenyl-4-amino-5-hydroxybenzoic acid (HHAB) to produce DHHB when expressed in yeast cells lacking COQ9, even if utilization of para-aminobenzoic acid (pABA) involving C4-deamination seems not to occur in bacteria, plants and mammals, where only C5 hydroxylation of HHB has been shown (PubMed:26260787).

100 Clinical Results associated with COQ6

100 Translational Medicine associated with COQ6

0 Patents (Medical) associated with COQ6

Literatures (Medical) associated with COQ6

01 Mar 2025·Free Radical Biology and Medicine

Modelling the human coenzyme Q deficiency in Drosophila melanogaster

Article

Author: Astillero-López, Verónica ; Sanz, Alberto ; Navas, Plácido ; Guerra, Ignacio ; López-Lluch, Guillermo ; Casares, Fernando ; Cortés-Rodríguez, Ana Belén ; Fernández-Ayala, Daniel J M ; Santos-Ocaña, Carlos ; Scialo, Filippo ; Hernández-Camacho, Juan D ; Jiménez-Gancedo, Sandra ; Rodríguez-Aguilera, Juan Carlos ; Neto, Marta

The interference of the expression of each of the genes involved in the synthesis of coenzyme Q (CoQ) in Drosophila melanogaster can help to understand the pathophysiology of CoQ-dependent mitochondrial diseases in humans. We have knocked-down all genes involved in the CoQ biosynthesis pathway at different temperatures to induce depletion of CoQ at different levels throughout the body and in a tissue-specific manner. The efficiency of the knockdowns was quantified by Q-RTPCR and determination of CoQ levels by HPLC-UV + ECD. We performed mitochondria purification and quantified respiratory chain activity, both mitochondrial hydrogen peroxide and superoxide production, resistance to mechanical stress and determination of life expectancy. Finally, we evaluated the effect of CoQ10 supplementation as phenotype rescue therapy. D. melanogaster presents 3 isoforms of CoQ: CoQ8, CoQ9 and CoQ10. The level of depletion depended on the efficiency of the RNAi used and is specific for each gene. The interference of some genes interrupted fly development in embryogenesis (pdss2) or during metamorphosis (pdss1, coq3, coq5, coq8 and coq10), while in other cases viable adults can be obtained (coq2, coq6 and coq7). The knockdown of coq7 accumulated intermediates of the CoQ biosynthesis pathway at all stages of development, altered electron transfer with poor assembly of mitochondrial complexes, and deregulated mitochondrial hydrogen peroxide and superoxide production. Coq7 mutant flies showed partial lethality in metamorphosis, bang sensitivity and reduced life span of surviving animals. CoQ10 supplementation rescued the coq7-mutant phenotypes. Knock-down in the imaginal disc generated gene-specific eye deformities that can be mitigated by CoQ10 supplementation. Our results indicate that interference of the CoQ biosynthesis pathway in D. melanogaster shows a great diversity of phenotypes depending on the target gene, mirroring the heterogeneity of CoQ deficiency syndrome in humans and point to why mutations in certain genes are rarely found in patients.

01 Feb 2025·Pediatric Nephrology

Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy

Article

Author: Lam, Ching-Wan ; Chan, Eugene Yu-Hin ; Lin, Kyle Ying-Kit ; Lap-Tak Ma, Alison ; Licht, Christoph ; Chung, Brian Hon-Yin ; Lee, Mianne ; Rodenburg, Richard ; Fung, Cheuk-Wing

We report a child with biallelic COQ6 variants presenting with familial thrombotic microangiopathy (TMA). A Chinese boy presented with steroid-resistant nephrotic syndrome at 8 months old and went into kidney failure requiring peritoneal dialysis at 15 months old. He presented with hypertensive encephalopathy with the triad of microangiopathic haemolytic anaemia, thrombocytopenia, and acute on chronic kidney injury at 25 months old following a viral illness. Kidney biopsy showed features of chronic TMA. He was managed with supportive therapy and plasma exchanges and maintained on eculizumab. However, he had another TMA relapse despite complement inhibition a year later. Eculizumab was withdrawn, and supportive therapies, including ubiquinol (50 mg/kg/day) and vitamins, were optimized. He remained relapse-free since then for 4 years. Of note, his elder sister succumbed to multiple organ failure with histological evidence of chronic TMA at the age of 4. Retrospective genetic analysis revealed the same compound heterozygous variants in the COQ6 gene.

01 Dec 2024·Nature Immunology

Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease

Article

Author: Anaya, Edgar P. ; Blyth, Christopher C. ; Philips, Jennifer A ; Ramani, Rashmi ; Pomat, William S. ; Wilson, Leslie D ; Green, Taylor P ; Lin, Xue ; Yang, Fan ; Kazura, James W ; Clemens, Regina A ; Alexander, Katherine A. ; Walker, Emma C. ; Halabi, Carmen M. ; Matlam, John-Paul ; DeBosch, Brian J ; Pomat, William S ; Alexander, Katherine A ; Todd, Elizabeth M. ; Halabi, Carmen M ; Boluarte, Sebastian ; Philips, Jennifer A. ; Greenberg, Michael J. ; Druley, Todd E ; Clemens, Regina A. ; Zhou, Julie Y ; Krone, Emily ; Nerbonne, Jeanne M ; Druley, Todd E. ; Blyth, Christopher C ; Anaya, Edgar P ; Wilson, Leslie D. ; Walker, Emma C ; Zhou, Julie Y. ; Bryant, Michelle ; Yuasi, Lapule ; Morley, Sharon Celeste ; DeBosch, Brian J. ; Greenberg, Michael J ; Todd, Elizabeth M ; Greenberg, Lina ; Tong, R. Spencer ; Chandra, Pallavi ; Nerbonne, Jeanne M. ; Green, Taylor P. ; Kazura, James W. ; Javati, Sarah ; Tong, R Spencer

Acute lower respiratory tract infection (ALRI) remains a major worldwide cause of childhood mortality, compelling innovation in prevention and treatment. Children in Papua New Guinea (PNG) experience profound morbidity from ALRI caused by Streptococcus pneumoniae. As a result of evolutionary divergence, the human PNG population exhibits profound genetic variation and diversity. To address unmet health needs of children in PNG, we tested whether genetic variants increased ALRI morbidity. Whole-exome sequencing of a pilot child cohort identified homozygosity for a novel single-nucleotide variant (SNV) in coenzyme Q6 (COQ6) in cases with ALRI. COQ6 encodes a mitochondrial enzyme essential for biosynthesis of ubiquinone, an electron acceptor in the electron transport chain. A significant association of SNV homozygosity with ALRI was replicated in an independent ALRI cohort (P = 0.036). Mice homozygous for homologous mouse variant Coq6 exhibited increased mortality after pneumococcal lung infection, confirming causality. Bone marrow chimeric mice further revealed that expression of variant Coq6 in recipient (that is, nonhematopoietic) tissues conferred increased mortality. Variant Coq6 maintained ubiquinone biosynthesis, while accelerating metabolic remodeling after pneumococcal challenge. Identification of this COQ6 variant provides a genetic basis for increased pneumonia susceptibility in PNG and establishes a previously unrecognized role for the enzyme COQ6 in regulating inflammatory-mediated metabolic remodeling.

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COQ6

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